Susanne Kohl

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

Susanne Kohl, Tim Marx, Ian Giddings et al. · Nature Genetics · 1998 · 338 citations

Biology, Photoreceptor Cell, Retina +6

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

Susanne Kohl · Human Molecular Genetics · 2000 · 297 citations · Full text

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Susanne Kohl, Britta Baumann, Thomas Rosenberg et al. · The American Journal of Human Genetics · 2002 · 263 citations · Full text

Biology, Photoreceptor Cell, Genetic Disorder +6

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy et al. · The American Journal of Human Genetics · 2009 · 250 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +2